Segregation of all three TYR variants in all Amish families (families 1–4) is shown in Fig. 1, which demonstrates that the p.(Ser192Tyr)/p.(Arg402Gln) variants were linked in cis and inherited in a compound heterozygous fashion with p.(Met252Arg) (which itself occurs in cis with p.(Arg402Gln)) in all affected individuals except for a single affected individual with OCA, found to be homozygous for p.(Met252Arg) through targeted dideoxy sequencing. The gene discussed is TYR; the disease is oculocutaneous albinism.